Denouement and Discussion
Pfeiffer's Syndrome (Acrocephalosyndactyly Type V)
Major manifestations are craniosynostosis, unusual facial appearance, and hand abnormalities. Although various sutures can be affected, premature closure of the coronal sutures occurs most frequently. Other craniofacial findings include brachycephaly, prominence of the frontal area, a broad nasal bridge, downward slant of the palpebral fissures, eyes that appear to be widely spaced, a short nose with slight beaking, a high-arched palate, and midfacial hypoplasia. The fingers may be short, and frequently, there is hypoplasia or absence of the middle phalanges. Characteristically, the thumbs are broad and are radially deviated. Other skeletal anomalies include hallux varus, trapezoid-shaped proximal phalanges of the great toes, syndactyly, and radial ulnar synostosis. Intelligence is usually not impaired.
Pfeiffer's syndrome is inherited in an autosomal dominant manner, as are the majority of the acrocephalosyndactyly syndromes (eg, Apert's and Saethre-Chotzen